Description:
MUCOPOLYSACCHARIDOSIS TYPE VI
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| N-acetylgalactosamine-4-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.12 |
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| Remarks |
Congestive heart failure; dysostosis multiplex; corneal clouding; deficient arylsulfatase B in fibroblasts & peripheral blood leukocytes; same patient as GM01022A |
| Beratis NG, Turner BM, Weiss R, Hirschhorn K, Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification. Pediatr Res9:475-80 1975 |
| PubMed ID: 806052 |
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